Mutation details:

Protein level identifier:

p.Ala657Thr

cDNA level identifier:

c.1969G>A

Genome level identifier:

g.445018G>A

Reference, alternative allele:

G, A

Genetic location (hg19):

chr11:26655846 (not available on ExAC)

Gene name:

ANO3

Consequence:

missense

Pathogenicity scoring:

probably pathogenic

CADD score:

33

Positive functional evidence:

0

Number of all included cases:

4 heterozygous (4 in total).

×